Abstract Introduction: Myhre syndrome (MS; OMIM# 139210) is a rare connective tissue
disorder presenting with cardiovascular, respiratory, gastrointestinal, and skeletal system …

Myhre syndrome is a rare multisystem connective tissue disorder, characterized by short
stature, facial dysmorphology, variable intellectual disability, skeletal abnormalities …

Myhre syndrome is a clinically distinct syndrome with multiple system involvement. It was
first described in 1981 by Myhre et al.(1981) in two unrelated patients. The condition was …

Myhre syndrome (MYHRS, OMIM 139210) is an autosomal dominant disorder characterized
by developmental and growth delay, athletic muscular built, variable cognitive deficits …

Myhre syndrome is an increasingly diagnosed rare syndrome that is caused by one of two
specific heterozygous gain‐of‐function pathogenic variants in SMAD4. The phenotype …

Myhre syndrome is a rare autosomal dominant multi-organ disorder characterized by growth
retardation, skeletal anomalies, muscular hypertrophy, joint stiffness, facial dysmorphism …

Myhre syndrome is a rare genetic autosomal dominant connective tissue disorder,
characterized by developmental delay, characteristic facial features, various bone and joint …

Myhre syndrome is a rare disorder characterized by pre‐and postnatal short stature,
brachydactyly, facial dysmorphism (short palpebral fissures, maxillary hypoplasia …

Myhre syndrome is a rare autosomal dominant genetic condition characterized by short
stature, distinctive facial dysmorphisms, generalized muscle hypertrophy, skeletal …

Background: Myhre syndrome, caused by pathogenic variants in SMAD4, is characterized
by compact body habitus with short stature, distinctive craniofacial appearance, stiff skin …